Planté-Bordeneuve V, Bandmann O, Wenning G, Quinn N P, Daniel S E, Harding A E
University Department of Clinical Neurology (Neurogenetics and Movement Disorders Sections and Parkinson's Disease Society Brain Bank), Institute of Neurology, London, England.
Mov Disord. 1995 May;10(3):277-8. doi: 10.1002/mds.870100307.
Molecular genetic studies of the cytochrome P450 system enzyme CYP2D6, which hydroxylates debrisoquine, have indicated an excess of mutant alleles in large series of patients with Parkinson's disease (PD) when compared with controls. We have investigated CYP2D6 polymorphism in 91 patients with multiple system atrophy (MSA) in order to determine if this finding is specific to PD or if there is similar evidence of genetic susceptibility to neurotoxicity in MSA. The distribution of CYP2D6 alleles was not significantly different between MSA patients and controls, and there were fewer poor metabolisers in the MSA group than in the control group.
对可使异喹胍羟基化的细胞色素P450系统酶CYP2D6进行的分子遗传学研究表明,与对照组相比,在大量帕金森病(PD)患者中突变等位基因过多。我们对91例多系统萎缩(MSA)患者的CYP2D6多态性进行了研究,以确定这一发现是否仅针对PD,或者MSA中是否也有类似的神经毒性遗传易感性证据。MSA患者和对照组之间CYP2D6等位基因的分布没有显著差异,且MSA组中代谢不良者比对照组更少。